Canonical Allele Identifier: CA599875439

Gene: BBS1

Linked Data

• dbSNP Id: rs1280528754
• gnomAD v2: 11-66283094-CCTT-C
• gnomAD v3: 11-66515623-CCTT-C
• gnomAD v4: 11-66515623-CCTT-C
• MyVariant Identifiers: chr11:g.66283095_66283097del (hg19) ; chr11:g.66515624_66515626del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66515625_66515627del , CM000673.2:g.66515625_66515627del	GRCh38
NC_000011.9:g.66283096_66283098del , CM000673.1:g.66283096_66283098del	GRCh37
NC_000011.8:g.66039672_66039674del	NCBI36
NG_009093.1:g.9978_9980del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318312.12:c.479+39_479+41del MANE Select	ENSP00000317469.7:n.479+39_479+41del
ENST00000318312.11:c.479+39_479+41del	ENSP00000317469.7:n.479+39_479+41del
ENST00000393994.4:c.479+39_479+41del	ENSP00000377563.2:n.479+39_479+41del
ENST00000419755.3:c.590+39_590+41del	ENSP00000398526.3:n.590+39_590+41del
ENST00000455748.6:c.432+947_432+949del	ENSP00000405764.2:n.432+947_432+949del
ENST00000524458.5:c.*140-68_*140-66del	ENSP00000436195.1:n.*140-68_*140-66del
ENST00000524907.5:n.508_510del
ENST00000525809.5:c.206+39_206+41del	ENSP00000431187.1:n.206+39_206+41del
ENST00000526035.5:c.*186+39_*186+41del	ENSP00000434197.1:n.*186+39_*186+41del
ENST00000526760.5:c.*186+39_*186+41del	ENSP00000432140.1:n.*186+39_*186+41del
ENST00000527251.5:c.*186+39_*186+41del	ENSP00000434360.1:n.*186+39_*186+41del
ENST00000529766.5:n.486+39_486+41del
ENST00000529953.5:n.131+39_131+41del
ENST00000529955.5:n.451-68_451-66del
ENST00000532908.5:c.*140-68_*140-66del	ENSP00000431866.1:n.*140-68_*140-66del
ENST00000533430.5:n.257+39_257+41del
ENST00000533557.5:c.*140-68_*140-66del	ENSP00000434619.1:n.*140-68_*140-66del
ENST00000533644.5:c.433-68_433-66del	ENSP00000436073.1:n.433-68_433-66del
ENST00000534730.5:n.491+39_491+41del
ENST00000630659.2:c.*186+39_*186+41del	ENSP00000486455.1:n.*186+39_*186+41del
NM_024649.4:c.479+39_479+41del	NP_078925.3:n.479+39_479+41del
NM_024649.5:c.479+39_479+41del MANE Select	NP_078925.3:n.479+39_479+41del